Lynch syndrome is the most common familial colorectal cancer syndrome. It is linked to germline mutations in one of four DNA mismatch repair (MMR) genes. A comprehensive family history is one important way to identify at-risk individuals. The elucidation of the molecular genetics of this syndrome has made it possible to screen for the disorder with molecular tests. Microsatellite instability and/or immunohistochemistry followed by germline testing for mutations in MMR genes is now a standard approach for clinically suspected cases. Correctly recognizing Lynch syndrome is essential for the application of appropriate screening and surveillance measures. Close surveillance and risk-reducing operations can decrease cancer-related mortality. In addition, counseling is an important component of the management of any family with Lynch syndrome.
Colon ; Colonic Neoplasms ; Colorectal Neoplasms ; Colorectal Neoplasms, Hereditary Nonpolyposis ; Counseling ; DNA Mismatch Repair ; Germ-Line Mutation ; Humans ; Immunohistochemistry ; Mass Screening ; Microsatellite Instability ; Molecular Biology